rs10126261 - SPANXA2-OT1

Magnitude 2.2 · 1 study on file

Reported associations

• GWAS reveals loci associated with velopharyngeal dysfunction - Unknown journal (n.d.) · Unknown authors · PubMed 29855589

  ABSTRACT: Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading to hypernasality and abnormal speech reduction. Because VPD is often associated with overt or submucous cleft palate, it could be present as a subclinical phenotype in families with a history of orofacial clefting. A key assumption to this model is that the overt and subclinical manifestations of the orofacial cleft phenotype exist on a continuum and therefore share common etiological factors. We performed a genome-wide association study in 976 unaffected relatives of isolated CP probands, 54 of whom had VPD. Five loci were significantly (p < 5 × 10−8) associated with VP

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